Canonical Allele Identifier: PA2830125627
Gene: COL12A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 259356
ClinVar RCV Id: RCV000248918 RCV000488209 RCV001082633 RCV000987739 RCV002519921
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542376.2:p.Arg1864His
CA3892023
NM_080645.3:c.5591G>A